Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AMPD2 gene AMPD2 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000116337 ENSG00000116337 HGNC:469 AUTS2 gene AUTS2 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000158321 ENSG00000158321 HGNC:14262 BCL11A gene BCL11A Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000119866 ENSG00000119866 HGNC:13221 BRF1 gene BRF1 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000185024 ENSG00000185024 HGNC:11551 CASK gene CASK Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000147044 ENSG00000147044 HGNC:1497 CEP55 gene CEP55 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000138180 ENSG00000138180 HGNC:1161 CHMP1A gene CHMP1A Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000131165 ENSG00000131165 HGNC:8740 CLP1 gene CLP1 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000172409 ENSG00000172409 HGNC:16999 DDX3X gene DDX3X Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000215301 ENSG00000215301 HGNC:2745 EXOSC3 gene EXOSC3 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000107371 ENSG00000107371 HGNC:17944 EXOSC8 gene EXOSC8 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000120699 ENSG00000120699 HGNC:17035 FOXP1 gene FOXP1 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000114861 ENSG00000114861 HGNC:3823 FZD3 gene FZD3 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000104290 ENSG00000104290 HGNC:4041 GPAA1 gene GPAA1 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000197858 ENSG00000197858 HGNC:4446 INTS8 gene INTS8 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000164941 ENSG00000164941 HGNC:26048 ITPR1 gene ITPR1 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000150995 ENSG00000150995 HGNC:6180 KAT5 gene KAT5 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000172977 ENSG00000172977 HGNC:5275 KCNC3 gene KCNC3 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000131398 ENSG00000131398 HGNC:6235 KIAA1109 gene KIAA1109 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000138688 ENSG00000138688 HGNC:26953 OPHN1 gene OPHN1 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000079482 ENSG00000079482 HGNC:8148 PCLO gene PCLO Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000186472 ENSG00000186472 HGNC:13406 PPP1CB gene PPP1CB Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000213639 ENSG00000213639 HGNC:9282 PUS3 gene PUS3 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000110060 ENSG00000110060 HGNC:25461 RAB11B gene RAB11B Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000185236 ENSG00000185236 HGNC:9761 RARS2 gene RARS2 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000146282 ENSG00000146282 HGNC:21406 RELN gene RELN Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000189056 ENSG00000189056 HGNC:9957 SEPSECS gene SEPSECS Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000109618 ENSG00000109618 HGNC:30605 SETD2 gene SETD2 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000181555 ENSG00000181555 HGNC:18420 SLC25A46 gene SLC25A46 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000164209 ENSG00000164209 HGNC:25198 SPTBN2 gene SPTBN2 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000173898 ENSG00000173898 HGNC:11276 TBC1D23 gene TBC1D23 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services 28823706 False 3 0;0;0 0.4 False ENSG00000036054 ENSG00000036054 HGNC:25622 TBCK gene TBCK Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000145348 ENSG00000145348 HGNC:28261 TOE1 gene TOE1 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000132773 ENSG00000132773 HGNC:15954 TRAPPC6B gene TRAPPC6B Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000182400 ENSG00000182400 HGNC:23066 TSEN15 gene TSEN15 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000198860 ENSG00000198860 HGNC:16791 TSEN2 gene TSEN2 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN34 gene TSEN34 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000170892 ENSG00000170892 HGNC:15506 TSEN54 gene TSEN54 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000182173 ENSG00000182173 HGNC:27561 TUBA1A gene TUBA1A Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000167552 ENSG00000167552 HGNC:20766 TUBA8 gene TUBA8 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000183785 ENSG00000183785 HGNC:12410 TUBB2B gene TUBB2B Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000137285 ENSG00000137285 HGNC:30829 TUBB3 gene TUBB3 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000258947 ENSG00000258947 HGNC:20772 VLDLR gene VLDLR Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000147852 ENSG00000147852 HGNC:12698 VPS53 gene VPS53 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000141252 ENSG00000141252 HGNC:25608 VRK1 gene VRK1 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000100749 ENSG00000100749 HGNC:12718 WDR91 gene WDR91 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000105875 ENSG00000105875 HGNC:24997